[Polymorphism and differential diagnosis of neonatal lupus erythematosus].

Introduction: Neonatal lupus erythematosus (NEL) is a rare condition secondary to transplacental transfer of maternal anti-nuclear antibodies, generally anti-Ro/SSA. The most common signs are dermatological and cardiac. The most frequently reported clinical association is periorbital erythema, known as "owl eye", and bipolar erythematous maculopapular plaques with fine scales.

[Children with psoriasis in secondary care: Clinical aspects and comorbidities diverge from the generally published data].

Background: Psoriasis affects 0.2-0.7 % of children and is associated with obesity.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Background: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing.

Travelers with cutaneous leishmaniasis cured without systemic therapy.

Background: Cutaneous leishmaniasis (CL) is a disfiguring but not life-threatening disease. Because antileishmanial drugs are potentially toxic, the World Health Organization (WHO) recommends simple wound care or local therapy as first-line treatment, followed or replaced by systemic therapy if local therapy fails or cannot be performed.

Methods: To determine the feasibility and impact of the recommended approach, we analyzed the results of a centralized referral treatment program in 135 patients with parasitologically proven CL.

Connective tissue nevi: an entity revisited.

Background: Connective tissue nevi (CTN) may be isolated, either sporadic or hereditary, or syndromic as in the Buschke-Ollendorff syndrome. Few publications have addressed the variable clinical and histopathologic expression of these benign hamartomas.

Objective: We sought to characterize the clinical and histopathologic features of CTN and to highlight a spectrum of clinical disease.

Propranolol for treatment of ulcerated infantile hemangiomas.

Background: Ulcerated infantile hemangiomas (IH) are a therapeutic challenge. Propranolol, a nonselective beta-blocker, was recently introduced as a novel treatment for IH.

Objective: To evaluate our experience of propranolol in the management of ulcerated IH.

Clinical study of 40 cases of incontinentia pigmenti.

Objective: To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP).

Design: Retrospective study of 47 children referred to the Department of Pediatric Dermatology with a diagnosis of IP between 1986 and 1999.

Setting: The private or institutional practice of participating dermatologists and pediatricians.

Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism.

Background: Incontinentia pigmenti (IP) is an X-linked genodermatosis that is manifested by neonatal inflammatory vesicles localized along the lines of Blaschko. These lesions usually clear spontaneously within a few months, leaving hyperpigmentation. Ophthalmologic and neurologic symptoms can be associated with IP.

[Facial cellulite associated with mandibular osteomyelitis in an infant].

Introduction: The discovery of a jugular tumefaction in an infant evokes several diseases. We report the case of a 4-month-old infant whose jugular cellulite revealed mandibular osteomyelitis.

Case Report: A 4-month-old boy was referred for hard, hot tumefaction of the right cheek and multiple cervical adenopathies.

[Cutaneous hydration of the premature and new born].

The barrier function of the stratum corneum is a fundamental element in maintaining cutaneous hydration. Alteration in the stratum corneum leads to the loss of this barrier function, with increased transdermal water loss, decreased water content and installation of xerosis. Moisturizers correct cutaneous xerosis by restoring the stratum corneum.

[Pemphigoid gestationis: treatment by topical class I corticosteroid].

Background: Systemic corticosteroid is the main treatment of severe forms of pemphigoid gestationis. We report a case of generalised pemphigoid gestationis successfully treated with very potent topical corticosteroid.

Case: A 37-year-old woman developed during her third pregnancy with a new partner an urticated generalised eruption associated with bullous lesions.

High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum.

Recently, hptc, a human gene homologous to the Drosophila segment polarity gene patched (ptc), has been implicated in the nevoid basal-cell carcinoma (BCC) syndrome, and somatic mutations of hptc also have been found in sporadic BCCs, the most frequent cancers found in the white population. We have analyzed the hptc gene, postulated to be a tumor suppressor gene, in 22 BCCs from patients with the hyperphotosensitive genodermatosis xeroderma pigmentosum (XP). Patients with XP are deficient in the repair of UV-induced DNA lesions and are characterized by their predisposition to cancers in sun-exposed skin.